SNP Links for Gene (Select 29081) - SNP

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Select item 14913488931.

rs1491348893 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:169814468 (GRCh38)
2:170670978 (GRCh37)
Canonical SPDI:: NC_000002.12:169814467:CA:
Gene:: METTL5 (Varview), SNORD3K (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.169814468_169814469del, NC_000002.11:g.170670978_170670979del

Select item 14908793172.

rs1490879317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:169825116 (GRCh38)
2:170681626 (GRCh37)
Canonical SPDI:: NC_000002.12:169825115:C:T
Gene:: METTL5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.169825116C>T, NC_000002.11:g.170681626C>T

Select item 14904829473.

rs1490482947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:169811978 (GRCh38)
2:170668488 (GRCh37)
Canonical SPDI:: NC_000002.12:169811977:A:G
Gene:: SSB (Varview), METTL5 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000447/2 (ALFA)
G=0.000014/2 (GnomAD)
G=0.00067/3 (Estonian)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.169811978A>G, NC_000002.11:g.170668488A>G, NG_030640.1:g.18167A>G, NM_003142.5:c.*222A>G, NM_003142.4:c.*222A>G, NM_001294145.2:c.*222A>G, NM_001294145.1:c.*222A>G

Select item 14904563624.

rs1490456362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:169821217 (GRCh38)
2:170677727 (GRCh37)
Canonical SPDI:: NC_000002.12:169821216:G:A
Gene:: METTL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.169821217G>A, NC_000002.11:g.170677727G>A, NM_014168.4:c.281C>T, NM_014168.3:c.281C>T, NM_014168.2:c.281C>T, NM_001293186.2:c.281C>T, NM_001293186.1:c.281C>T, XM_011511023.2:c.281C>T, XM_011511023.1:c.281C>T, NM_001293187.2:c.281C>T, NM_001293187.1:c.281C>T, XM_047444015.1:c.281C>T, NP_054887.2:p.Ala94Val, NP_001280115.1:p.Ala94Val, XP_011509325.1:p.Ala94Val, NP_001280116.1:p.Ala94Val, XP_047299971.1:p.Ala94Val

Select item 14900631355.

rs1490063135 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:169812596 (GRCh38)
2:170669106 (GRCh37)
Canonical SPDI:: NC_000002.12:169812593:AAAA:AA
Gene:: METTL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.000071/1 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000049/13 (TOPMED)
HGVS:: NC_000002.12:g.169812596_169812597del, NC_000002.11:g.170669106_170669107del, NG_030640.1:g.18785_18786del

Select item 14898982226.

rs1489898222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:169813037 (GRCh38)
2:170669547 (GRCh37)
Canonical SPDI:: NC_000002.12:169813036:G:A
Gene:: METTL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000546/1 (Korea1K)
A=0.000684/2 (KOREAN)
HGVS:: NC_000002.12:g.169813037G>A, NC_000002.11:g.170669547G>A, NG_030640.1:g.19226G>A

Select item 14898729707.

rs1489872970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:169812070 (GRCh38)
2:170668580 (GRCh37)
Canonical SPDI:: NC_000002.12:169812069:T:C
Gene:: SSB (Varview), METTL5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.169812070T>C, NC_000002.11:g.170668580T>C, NG_030640.1:g.18259T>C

Select item 14895983728.

rs1489598372 has merged into rs34915689 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 2:169813141 (GRCh38)
2:170669651 (GRCh37)
Canonical SPDI:: NC_000002.12:169813127:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:169813127:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:169813127:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:169813127:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:169813127:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:169813127:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:169813127:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: METTL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1526/588 (ALSPAC)
HGVS:: NC_000002.12:g.169813141_169813145del, NC_000002.12:g.169813142_169813145del, NC_000002.12:g.169813143_169813145del, NC_000002.12:g.169813144_169813145del, NC_000002.12:g.169813145del, NC_000002.12:g.169813145dup, NC_000002.12:g.169813144_169813145dup, NC_000002.11:g.170669651_170669655del, NC_000002.11:g.170669652_170669655del, NC_000002.11:g.170669653_170669655del, NC_000002.11:g.170669654_170669655del, NC_000002.11:g.170669655del, NC_000002.11:g.170669655dup, NC_000002.11:g.170669654_170669655dup, NG_030640.1:g.19330_19334del, NG_030640.1:g.19331_19334del, NG_030640.1:g.19332_19334del, NG_030640.1:g.19333_19334del, NG_030640.1:g.19334del, NG_030640.1:g.19334dup, NG_030640.1:g.19333_19334dup

Select item 14893678369.

rs1489367836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:169823356 (GRCh38)
2:170679866 (GRCh37)
Canonical SPDI:: NC_000002.12:169823355:C:T
Gene:: METTL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.169823356C>T, NC_000002.11:g.170679866C>T

Select item 148924925810.

rs1489249258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:169814888 (GRCh38)
2:170671398 (GRCh37)
Canonical SPDI:: NC_000002.12:169814887:C:T
Gene:: METTL5 (Varview), SNORD3K (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.00129/21 (ALFA)
HGVS:: NC_000002.12:g.169814888C>T, NC_000002.11:g.170671398C>T

Select item 148916318411.

rs1489163184 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:169820488 (GRCh38)
2:170676998 (GRCh37)
Canonical SPDI:: NC_000002.12:169820487:T:G
Gene:: METTL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.169820488T>G, NC_000002.11:g.170676998T>G

Select item 148916117812.

rs1489161178 has merged into rs11297953 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:169819978 (GRCh38)
2:170676488 (GRCh37)
Canonical SPDI:: NC_000002.12:169819970:TTTTTTTTTTTT:TTTTTTT,NC_000002.12:169819970:TTTTTTTTTTTT:TTTTTTTT,NC_000002.12:169819970:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:169819970:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:169819970:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:169819970:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:169819970:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:169819970:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: METTL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0./0 (ALSPAC)
T=0./0 (GENOME_DK)
T=0./0 (TWINSUK)
T=0.00839/141 (TOMMO)
T=0.04273/214 (1000Genomes)
T=0.04333/26 (NorthernSweden)
HGVS:: NC_000002.12:g.169819978_169819982del, NC_000002.12:g.169819979_169819982del, NC_000002.12:g.169819981_169819982del, NC_000002.12:g.169819982del, NC_000002.12:g.169819982dup, NC_000002.12:g.169819981_169819982dup, NC_000002.12:g.169819977_169819982dup, NC_000002.12:g.169819975_169819982dup, NC_000002.11:g.170676488_170676492del, NC_000002.11:g.170676489_170676492del, NC_000002.11:g.170676491_170676492del, NC_000002.11:g.170676492del, NC_000002.11:g.170676492dup, NC_000002.11:g.170676491_170676492dup, NC_000002.11:g.170676487_170676492dup, NC_000002.11:g.170676485_170676492dup

Select item 148908281213.

rs1489082812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:169824061 (GRCh38)
2:170680571 (GRCh37)
Canonical SPDI:: NC_000002.12:169824060:A:G
Gene:: METTL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.169824061A>G, NC_000002.11:g.170680571A>G

Select item 148882865714.

rs1488828657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:169824818 (GRCh38)
2:170681328 (GRCh37)
Canonical SPDI:: NC_000002.12:169824817:C:T
Gene:: METTL5 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000049/13 (TOPMED)
HGVS:: NC_000002.12:g.169824818C>T, NC_000002.11:g.170681328C>T, NM_014168.4:c.-221G>A, NM_014168.3:c.-221G>A, NM_014168.2:c.-221G>A, NM_001293186.2:c.-80G>A, NM_001293186.1:c.-80G>A, XM_011511023.2:c.-80G>A, XM_011511023.1:c.-80G>A

Select item 148835526415.

rs1488355264 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:169813330 (GRCh38)
2:170669840 (GRCh37)
Canonical SPDI:: NC_000002.12:169813329:T:C,NC_000002.12:169813329:T:G
Gene:: METTL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.169813330T>C, NC_000002.12:g.169813330T>G, NC_000002.11:g.170669840T>C, NC_000002.11:g.170669840T>G, NG_030640.1:g.19519T>C, NG_030640.1:g.19519T>G

Select item 148830620216.

rs1488306202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:169812481 (GRCh38)
2:170668991 (GRCh37)
Canonical SPDI:: NC_000002.12:169812480:T:G
Gene:: SSB (Varview), METTL5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.169812481T>G, NC_000002.11:g.170668991T>G, NG_030640.1:g.18670T>G, NM_014168.4:c.567A>C, NM_014168.3:c.567A>C, NM_014168.2:c.567A>C, NM_001293186.2:c.567A>C, NM_001293186.1:c.567A>C, XM_011511023.2:c.515A>C, XM_011511023.1:c.515A>C, NM_001293187.2:c.567A>C, NM_001293187.1:c.567A>C, XM_047444015.1:c.515A>C, XP_011509325.1:p.His172Pro, XP_047299971.1:p.His172Pro

Select item 148826390117.

rs1488263901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:169817168 (GRCh38)
2:170673678 (GRCh37)
Canonical SPDI:: NC_000002.12:169817167:C:A,NC_000002.12:169817167:C:T
Gene:: METTL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.169817168C>A, NC_000002.12:g.169817168C>T, NC_000002.11:g.170673678C>A, NC_000002.11:g.170673678C>T

Select item 148823386818.

rs1488233868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:169820132 (GRCh38)
2:170676642 (GRCh37)
Canonical SPDI:: NC_000002.12:169820131:T:C
Gene:: METTL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000079/21 (TOPMED)
HGVS:: NC_000002.12:g.169820132T>C, NC_000002.11:g.170676642T>C

Select item 148811113219.

rs1488111132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:169821317 (GRCh38)
2:170677827 (GRCh37)
Canonical SPDI:: NC_000002.12:169821316:C:T
Gene:: METTL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.169821317C>T, NC_000002.11:g.170677827C>T

Select item 148802875820.

rs1488028758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:169813742 (GRCh38)
2:170670252 (GRCh37)
Canonical SPDI:: NC_000002.12:169813741:G:A
Gene:: METTL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.169813742G>A, NC_000002.11:g.170670252G>A, NG_030640.1:g.19931G>A

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